Disease-gene associations mined from literature

Literature associating IMPDH2 and Bartter disease type 3

IMPDH2 [ENSP00000321584]

IMP (inosine 5'-monophosphate) dehydrogenase 2; Catalyzes the conversion of inosine 5'-phosphate (IMP) to xanthosine 5'-phosphate (XMP), the first committed and rate- limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell growth. Could also have a single-stranded nucleic acid-binding activity and could play a role in RNA and/or DNA metabolism. It may also have a role in the development of malignancy and the growth progression of some tumors.

Synonyms:  IMPDH2,  IMPDH2p,  hIMPDH2,  E7ETK5,  P12268 ...

Linkouts:  STRING  Pharos  UniProt  OMIM